Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7941 | 24046;24047;24048 | chr2:178719671;178719670;178719669 | chr2:179584398;179584397;179584396 |
| N2AB | 7624 | 23095;23096;23097 | chr2:178719671;178719670;178719669 | chr2:179584398;179584397;179584396 |
| N2A | 6697 | 20314;20315;20316 | chr2:178719671;178719670;178719669 | chr2:179584398;179584397;179584396 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs2078042798  |
None | None | N | 0.099 | 0.141 | 0.0884992946249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| N/D | rs2078042798 |
None | None | N | 0.099 | 0.141 | 0.0884992946249 | gnomAD-4.0.0 | 3.045E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.39761E-05 | 3.40275E-05 |
| N/K | rs370320967 |
0.536 | None | N | 0.133 | 0.093 | 0.0551355673512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/K | rs370320967 |
0.536 | None | N | 0.133 | 0.093 | 0.0551355673512 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs370320967 |
0.536 | None | N | 0.133 | 0.093 | 0.0551355673512 | gnomAD-4.0.0 | 3.04516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61481E-06 | 0 | 0 |
| N/S | None | None | 0.027 | N | 0.247 | 0.106 | 0.0762999501168 | gnomAD-4.0.0 | 3.42111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.598E-06 | 1.15934E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3532 | ambiguous | 0.4284 | ambiguous | -0.004 | Destabilizing | 0.035 | N | 0.265 | neutral | None | None | None | None | N |
| N/C | 0.4238 | ambiguous | 0.5241 | ambiguous | -0.006 | Destabilizing | 0.935 | D | 0.211 | neutral | None | None | None | None | N |
| N/D | 0.0979 | likely_benign | 0.1115 | benign | 0.08 | Stabilizing | None | N | 0.099 | neutral | N | 0.457803197 | None | None | N |
| N/E | 0.3013 | likely_benign | 0.3749 | ambiguous | 0.021 | Stabilizing | 0.035 | N | 0.251 | neutral | None | None | None | None | N |
| N/F | 0.7639 | likely_pathogenic | 0.8271 | pathogenic | -0.663 | Destabilizing | 0.555 | D | 0.226 | neutral | None | None | None | None | N |
| N/G | 0.1878 | likely_benign | 0.2335 | benign | -0.081 | Destabilizing | 0.067 | N | 0.219 | neutral | None | None | None | None | N |
| N/H | 0.0815 | likely_benign | 0.1012 | benign | -0.078 | Destabilizing | 0.001 | N | 0.143 | neutral | N | 0.472074849 | None | None | N |
| N/I | 0.6936 | likely_pathogenic | 0.7628 | pathogenic | 0.097 | Stabilizing | 0.484 | N | 0.259 | neutral | N | 0.514879951 | None | None | N |
| N/K | 0.1809 | likely_benign | 0.2356 | benign | 0.065 | Stabilizing | None | N | 0.133 | neutral | N | 0.49734302 | None | None | N |
| N/L | 0.4702 | ambiguous | 0.5515 | ambiguous | 0.097 | Stabilizing | 0.149 | N | 0.346 | neutral | None | None | None | None | N |
| N/M | 0.5835 | likely_pathogenic | 0.6535 | pathogenic | -0.019 | Destabilizing | 0.935 | D | 0.197 | neutral | None | None | None | None | N |
| N/P | 0.6535 | likely_pathogenic | 0.7304 | pathogenic | 0.085 | Stabilizing | 0.555 | D | 0.291 | neutral | None | None | None | None | N |
| N/Q | 0.1943 | likely_benign | 0.2598 | benign | -0.323 | Destabilizing | 0.081 | N | 0.25 | neutral | None | None | None | None | N |
| N/R | 0.1957 | likely_benign | 0.2694 | benign | 0.128 | Stabilizing | 0.001 | N | 0.15 | neutral | None | None | None | None | N |
| N/S | 0.0919 | likely_benign | 0.103 | benign | -0.116 | Destabilizing | 0.027 | N | 0.247 | neutral | N | 0.451182209 | None | None | N |
| N/T | 0.2755 | likely_benign | 0.3341 | benign | -0.068 | Destabilizing | 0.117 | N | 0.205 | neutral | N | 0.462844911 | None | None | N |
| N/V | 0.6596 | likely_pathogenic | 0.7408 | pathogenic | 0.085 | Stabilizing | 0.38 | N | 0.307 | neutral | None | None | None | None | N |
| N/W | 0.736 | likely_pathogenic | 0.8192 | pathogenic | -0.851 | Destabilizing | 0.935 | D | 0.335 | neutral | None | None | None | None | N |
| N/Y | 0.2421 | likely_benign | 0.2843 | benign | -0.5 | Destabilizing | 0.317 | N | 0.257 | neutral | N | 0.488381905 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.